Bronchiectasis with or without elevated sweat chloride

Definition:

Bronchiectasis is a condition in which the airways are permanently dilated due to recurrent inflammation or infection. In many cases, the cause is unknown but recently some of the patients have been shown to have mutations in the epithelial sodium channel ENaC. Furthermore, a three-fold significant increase in incidence of several rare ENaC polymorphisms was found in the patients.

References:

[1]. Abul Kalam Azad, et al. Mutations in the amiloride-sensitive epithelial sodium channel in patients with cystic fibrosis-like disease. Hum Mutat. 2009 Jul;30(7):1093-103. [Content Brief]

[2]. Isabelle Fajac, et al. Could a defective epithelial sodium channel lead to bronchiectasis. Respir Res. 2008 May 28;9(1):46. [Content Brief]

[3]. Jessica Rademacher, et al. Bronchiectasis--diagnosis and treatment. Dtsch Arztebl Int. 2011 Dec;108(48):809-15. [Content Brief]

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